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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-162153096-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162153096&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 162153096,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000639213.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Pro386Ala",
"transcript": "NM_198904.4",
"protein_id": "NP_944494.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 475,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "ENST00000639213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Pro386Ala",
"transcript": "ENST00000639213.2",
"protein_id": "ENSP00000491909.2",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 475,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "NM_198904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"transcript": "ENST00000414552.6",
"protein_id": "ENSP00000410732.2",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 515,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Pro378Ala",
"transcript": "ENST00000639111.2",
"protein_id": "ENSP00000492125.2",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 467,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1276C>G",
"hgvs_p": "p.Pro426Ala",
"transcript": "NM_198903.2",
"protein_id": "NP_944493.2",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 515,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1252C>G",
"hgvs_p": "p.Pro418Ala",
"transcript": "NM_001375343.1",
"protein_id": "NP_001362272.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 507,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1252C>G",
"hgvs_p": "p.Pro418Ala",
"transcript": "ENST00000361925.9",
"protein_id": "ENSP00000354651.5",
"transcript_support_level": 3,
"aa_start": 418,
"aa_end": null,
"aa_length": 507,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1225C>G",
"hgvs_p": "p.Pro409Ala",
"transcript": "ENST00000641017.1",
"protein_id": "ENSP00000493461.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 498,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1195C>G",
"hgvs_p": "p.Pro399Ala",
"transcript": "NM_001375344.1",
"protein_id": "NP_001362273.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 488,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1156C>G",
"hgvs_p": "p.Pro386Ala",
"transcript": "ENST00000356592.8",
"protein_id": "ENSP00000349000.4",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 475,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Pro385Ala",
"transcript": "NM_001375341.1",
"protein_id": "NP_001362270.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 474,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1147C>G",
"hgvs_p": "p.Pro383Ala",
"transcript": "NM_001375339.1",
"protein_id": "NP_001362268.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 472,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Pro378Ala",
"transcript": "NM_000816.3",
"protein_id": "NP_000807.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 467,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1129C>G",
"hgvs_p": "p.Pro377Ala",
"transcript": "NM_001375342.1",
"protein_id": "NP_001362271.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 466,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Pro364Ala",
"transcript": "NM_001375346.1",
"protein_id": "NP_001362275.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 453,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Pro364Ala",
"transcript": "ENST00000639683.1",
"protein_id": "ENSP00000492581.1",
"transcript_support_level": 5,
"aa_start": 364,
"aa_end": null,
"aa_length": 453,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.Pro357Ala",
"transcript": "NM_001375347.1",
"protein_id": "NP_001362276.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 446,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.Pro357Ala",
"transcript": "ENST00000640985.1",
"protein_id": "ENSP00000492293.1",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 446,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1066C>G",
"hgvs_p": "p.Pro356Ala",
"transcript": "NM_001375345.1",
"protein_id": "NP_001362274.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 445,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1066C>G",
"hgvs_p": "p.Pro356Ala",
"transcript": "ENST00000639975.1",
"protein_id": "ENSP00000492096.1",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 445,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.871C>G",
"hgvs_p": "p.Pro291Ala",
"transcript": "ENST00000638660.1",
"protein_id": "ENSP00000492869.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 380,
"cds_start": 871,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Pro283Ala",
"transcript": "NM_001375349.1",
"protein_id": "NP_001362278.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 372,
"cds_start": 847,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Febrile seizures, familial, 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}